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255399007: Congenital (qualifier value)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
380598010 Congenital en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
380599019 Congenita en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
646433016 Congenital (qualifier value) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
273731000077117 congénital fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital Is a Periods of life false Inferred relationship Some
Congenital Is a Fetal and/or neonatal period true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Congenital arteriovenous fistula stenosis Occurrence True Congenital Inferred relationship Some 1
Testicular regression syndrome Occurrence True Congenital Inferred relationship Some 1
Cranio-osteoarthropathy (COA) is a form of primary hypertrophic osteoarthropathy characterized by delayed closure of the cranial sutures and fontanels, digital clubbing, arthropathy, and periostosis. Occurrence True Congenital Inferred relationship Some 1
Sternum bifidum Occurrence True Congenital Inferred relationship Some 1
Mietens syndrome Occurrence True Congenital Inferred relationship Some 1
Congenital phlebectasia Occurrence False Congenital Inferred relationship Some 1
Junctional epidermolysis bullosa (disorder) Occurrence True Congenital Inferred relationship Some 1
Hypertelorism Occurrence True Congenital Inferred relationship Some 1
Hay-Wells syndrome of ectodermal dysplasia Occurrence True Congenital Inferred relationship Some 3
Spondyloepimetaphyseal dysplasia, aggrecan type is a new form of skeletal dysplasia characterized by severe short stature, facial dysmorphism and characteristic radiographic findings. Occurrence True Congenital Inferred relationship Some 1
Congenital rectovaginal fistula Occurrence True Congenital Inferred relationship Some 1
Cutis laxa, x-linked Occurrence True Congenital Inferred relationship Some 1
Mannosidosis, type I Occurrence True Congenital Inferred relationship Some 1
Atrioventricular septal defect with ventricular imbalance consisting of dominant right ventricle and hypoplastic left ventricle (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital tracheoesophageal fistula with esophageal stenosis (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital tracheoesophageal fistula with esophageal stenosis (disorder) Occurrence True Congenital Inferred relationship Some 2
Carpotarsal osteochondromatosis is a very rare primary bone dysplasia disorder with characteristics of abnormal bone proliferation and osteochondromas in the upper and lower limbs. Occurrence True Congenital Inferred relationship Some 1
A very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects. Occurrence True Congenital Inferred relationship Some 1
A very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects. Occurrence True Congenital Inferred relationship Some 2
Auriculoocular anomaly and cleft lip syndrome Occurrence False Congenital Inferred relationship Some 2
An extremely rare syndrome reported in two siblings of non-consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma, telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis and mild psychomotor delay. There have been no further descriptions in the literature since 1974. Occurrence True Congenital Inferred relationship Some 1
Precocious osteodysplasty (disorder) Occurrence True Congenital Inferred relationship Some 1
A rare multiple congenital anomalies syndrome characterized by holoprosencephaly, predominantly radial limb deficiency (absent thumbs, phocomelia), heart defects, kidney malformations and absence of gallbladder. Variable manifestations include vertebral anomalies, cleft lip/palate, microphthalmia, absent nose, dysplastic ears, hearing loss, colobomas of the iris and retina and/or bifid uvula. Occurrence True Congenital Inferred relationship Some 1
Arachnoid / ependymal cyst Occurrence False Congenital Inferred relationship Some 1
Heart-hand syndrome type 2 is an extremely rare heart-hand syndrome described in two families to date, that is characterized by upper limb malformations (brachytelephalangy type D, hypoplastic deltoids, mild shortening of the fourth and fifth metacarpals in some individuals, skeletal anomalies in the humerus, radius, ulnae, and thenar bones) and cardiac arrhythmias (junctional rhythms and atrial fibrillation). Occurrence True Congenital Inferred relationship Some 1
Anencephalus and similar anomalies Occurrence False Congenital Inferred relationship Some 1
Laryngeal cleft type III Occurrence True Congenital Inferred relationship Some 1
Thymic aplasia or dysplasia with immunodeficiency Occurrence True Congenital Inferred relationship Some 1
Multiple intracardiac shunts Occurrence True Congenital Inferred relationship Some 1
Double aortic valve Occurrence True Congenital Inferred relationship Some 1
Cryptophthalmos syndrome Occurrence True Congenital Inferred relationship Some 1
Craniolenticulosutural dysplasia (CLSD), also known as Boyadjiev-Jabs syndrome, is characterized by the specific association of large and late-closing fontanels, hypertelorism, early-onset cataract and mild generalized skeletal dysplasia. Occurrence True Congenital Inferred relationship Some 3
Craniolenticulosutural dysplasia (CLSD), also known as Boyadjiev-Jabs syndrome, is characterized by the specific association of large and late-closing fontanels, hypertelorism, early-onset cataract and mild generalized skeletal dysplasia. Occurrence True Congenital Inferred relationship Some 1
Craniolenticulosutural dysplasia (CLSD), also known as Boyadjiev-Jabs syndrome, is characterized by the specific association of large and late-closing fontanels, hypertelorism, early-onset cataract and mild generalized skeletal dysplasia. Occurrence True Congenital Inferred relationship Some 2
Osteogenesis imperfecta type IIA presents with broad ribs with multiple fractures, continuous beaded ribs and severe under-modeling of the femur. Occurrence True Congenital Inferred relationship Some 1
14q11.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, hypotonia and facial dysmorphism. Occurrence True Congenital Inferred relationship Some 2
14q11.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, hypotonia and facial dysmorphism. Occurrence True Congenital Inferred relationship Some 1
Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects. Occurrence True Congenital Inferred relationship Some 1
Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects. Occurrence True Congenital Inferred relationship Some 2
Ulnar dimelia Occurrence True Congenital Inferred relationship Some 1
Right descending aorta Occurrence True Congenital Inferred relationship Some 1
Atrioventricular septal defect with ventricular component under superior bridging leaflet without chordal attachment to ventricular septal crest (disorder) Occurrence True Congenital Inferred relationship Some 1
Endocardial fibroelastosis of left atrium (disorder) Occurrence True Congenital Inferred relationship Some 1
Segmental neurofibromatosis Occurrence True Congenital Inferred relationship Some 1
albinoïdisme Occurrence False Congenital Inferred relationship Some 1
Incomplete bilateral cleft palate Occurrence True Congenital Inferred relationship Some 1
Craniosynostosis with facial dysmorphism and brachydactyly syndrome Occurrence False Congenital Inferred relationship Some 3
Craniosynostosis with facial dysmorphism and brachydactyly syndrome Occurrence False Congenital Inferred relationship Some 1
Craniosynostosis with facial dysmorphism and brachydactyly syndrome Occurrence False Congenital Inferred relationship Some 2
Townes syndrome Occurrence True Congenital Inferred relationship Some 1
Epidermolysis bullosa simplex with hypodontia Occurrence True Congenital Inferred relationship Some 1
A rare syndromic form of lissencephaly characterized by severe microcephaly, agyria, agenesis of the corpus callosum, cerebellar hypoplasia, facial dysmorphology and epiphyseal stippling of the metacarpal bones. The syndrome may be an allelic variant of Neu-Laxova syndrome and Lissencephaly type III with cystic dilations of the cerebellum and fetal akinesia sequence. Occurrence True Congenital Inferred relationship Some 1
Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome is characterized by congenital muscular dystrophy, infantile cataract and hypogonadism. It has been described in seven individuals from an isolated Norwegian village and in one unrelated individual. Transmission appears to be autosomal recessive. Occurrence True Congenital Inferred relationship Some 2
Talipomanus Occurrence True Congenital Inferred relationship Some 1
Mixed sclerosing bone dysplasia (disorder) Occurrence True Congenital Inferred relationship Some 1
Cleidocranial dysostosis Occurrence True Congenital Inferred relationship Some 3
Cleidocranial dysostosis Occurrence True Congenital Inferred relationship Some 1
Cleidocranial dysostosis Occurrence True Congenital Inferred relationship Some 4
Cleidocranial dysostosis Occurrence True Congenital Inferred relationship Some 2
Retrocaval ureter (disorder) Occurrence True Congenital Inferred relationship Some 1
Chondrodysplasia punctata (stippled epiphyses) group (disorder) Occurrence True Congenital Inferred relationship Some 1
Cataract-glaucoma syndrome is characterized by the association of total bilateral congenital cataract with the secondary occurrence of glaucoma appearing at ages varying between 10 and 40 years. Occurrence True Congenital Inferred relationship Some 1
A rare form of spinal muscular atrophy characterized by the neonatal onset of severe hypotonia, areflexia, profound weakness, multiple congenital contractures, facial dysmorphic features (myopathic face with open, tent-shaped mouth), cryptorchidism, and mild skeletal abnormalities (i.e. kyphosis, scoliosis), that is often preceded by polyhydramnios and reduced fetal movements in utero and followed by bone fractures shortly after birth. Muscle weakness is progressive and chest muscle involvement eventually leads to ventilatory insufficiency and respiratory failure. Occurrence True Congenital Inferred relationship Some 1
Nemaline myopathy Occurrence False Congenital Inferred relationship Some 1
Hydatid cyst of Morgagni - male Occurrence True Congenital Inferred relationship Some 1
Birthmark Occurrence True Congenital Inferred relationship Some 1
Incomplete ossification of maxilla Occurrence True Congenital Inferred relationship Some 1
Sparse hair with short stature and skin anomaly syndrome Occurrence False Congenital Inferred relationship Some 1
Sparse hair with short stature and skin anomaly syndrome Occurrence False Congenital Inferred relationship Some 2
A rare, syndromic, genetic respiratory disease characterized by cataracts, otitis media, intestinal malabsorption, chronic respiratory infections, and failure to thrive. Recurrent pneumonia and progressive azotemia, leading to end-stage renal disease and early death, are additionally observed. There have been no further descriptions in the literature since 1992. Occurrence True Congenital Inferred relationship Some 1
Spondylodysplasia Occurrence True Congenital Inferred relationship Some 1
Spina bifida with stenosis of aqueduct of Sylvius Occurrence True Congenital Inferred relationship Some 3
Ectodermal dysplasia with hair-tooth defects Occurrence True Congenital Inferred relationship Some 1
A rare multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures. Occurrence True Congenital Inferred relationship Some 2
A rare multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures. Occurrence False Congenital Inferred relationship Some 4
A rare multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures. Occurrence True Congenital Inferred relationship Some 3
A rare multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures. Occurrence True Congenital Inferred relationship Some 1
Sialic acid storage disease, severe infantile type Occurrence True Congenital Inferred relationship Some 1
Epidermolysis bullosa Occurrence True Congenital Inferred relationship Some 1
Stimmler syndrome is characterized by the association of microcephaly, low birth weight and severe intellectual deficit with dwarfism, small teeth and diabetes mellitus. Two cases have been described. Biochemical tests reveal the presence of high levels of alanine in the urine and elevated alanine, pyruvate and lactate levels in the blood. Occurrence True Congenital Inferred relationship Some 1
Stimmler syndrome is characterized by the association of microcephaly, low birth weight and severe intellectual deficit with dwarfism, small teeth and diabetes mellitus. Two cases have been described. Biochemical tests reveal the presence of high levels of alanine in the urine and elevated alanine, pyruvate and lactate levels in the blood. Occurrence True Congenital Inferred relationship Some 2
Osteopathia striata Occurrence True Congenital Inferred relationship Some 1
False tendon - heart Occurrence True Congenital Inferred relationship Some 1
Double cardiac valve orifice Occurrence True Congenital Inferred relationship Some 1
Netherton syndrome Occurrence True Congenital Inferred relationship Some 1
Congenital arteriovenous fistula thrombosis Occurrence True Congenital Inferred relationship Some 1
Craniopagus Occurrence True Congenital Inferred relationship Some 1
Retrosternal thyroid gland Occurrence True Congenital Inferred relationship Some 1
A rare, genetic, neurocutaneous disease characterized by severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis. Patients present with a unique constellation of clinical signs described with the acronym CEDNIK: CErebral Dysgenesis, Neuropathy, Ichthyosis, and palmoplantar Keratoderma. Occurrence True Congenital Inferred relationship Some 1
A rare, genetic, neurocutaneous disease characterized by severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis. Patients present with a unique constellation of clinical signs described with the acronym CEDNIK: CErebral Dysgenesis, Neuropathy, Ichthyosis, and palmoplantar Keratoderma. Occurrence True Congenital Inferred relationship Some 2
Synophrys Occurrence True Congenital Inferred relationship Some 1
A distinct form of Crouzon disease associated with acanthosis nigricans caused by a specific mutation (p.Ala391Glu) in the transmembrane domain of FGFR3. The disease is transmitted in an autosomal dominant manner with variable penetrance. Occurrence True Congenital Inferred relationship Some 3
A distinct form of Crouzon disease associated with acanthosis nigricans caused by a specific mutation (p.Ala391Glu) in the transmembrane domain of FGFR3. The disease is transmitted in an autosomal dominant manner with variable penetrance. Occurrence True Congenital Inferred relationship Some 2
Cataract-congenital heart disease-neural tube defect syndrome is a multiple congenital anomaly syndrome characterized by sacral neural tube defects resulting in tethered cord, atrial and/or ventricular septal heart defects (that are detected in infancy), bilateral, symmetrical hyperopia, rapidly progressive early childhood cataracts, bilateral aphakic glaucoma, and abnormal facial features (low frontal hairline, small ears, short philtrum, prominent, widely spaced central incisors, and micrognathia). Hypotonia, growth and developmental delay, seizures, and joint limitation are also reported. Occurrence True Congenital Inferred relationship Some 2
Cataract-congenital heart disease-neural tube defect syndrome is a multiple congenital anomaly syndrome characterized by sacral neural tube defects resulting in tethered cord, atrial and/or ventricular septal heart defects (that are detected in infancy), bilateral, symmetrical hyperopia, rapidly progressive early childhood cataracts, bilateral aphakic glaucoma, and abnormal facial features (low frontal hairline, small ears, short philtrum, prominent, widely spaced central incisors, and micrognathia). Hypotonia, growth and developmental delay, seizures, and joint limitation are also reported. Occurrence True Congenital Inferred relationship Some 1
Cataract-congenital heart disease-neural tube defect syndrome is a multiple congenital anomaly syndrome characterized by sacral neural tube defects resulting in tethered cord, atrial and/or ventricular septal heart defects (that are detected in infancy), bilateral, symmetrical hyperopia, rapidly progressive early childhood cataracts, bilateral aphakic glaucoma, and abnormal facial features (low frontal hairline, small ears, short philtrum, prominent, widely spaced central incisors, and micrognathia). Hypotonia, growth and developmental delay, seizures, and joint limitation are also reported. Occurrence True Congenital Inferred relationship Some 4
Cataract-congenital heart disease-neural tube defect syndrome is a multiple congenital anomaly syndrome characterized by sacral neural tube defects resulting in tethered cord, atrial and/or ventricular septal heart defects (that are detected in infancy), bilateral, symmetrical hyperopia, rapidly progressive early childhood cataracts, bilateral aphakic glaucoma, and abnormal facial features (low frontal hairline, small ears, short philtrum, prominent, widely spaced central incisors, and micrognathia). Hypotonia, growth and developmental delay, seizures, and joint limitation are also reported. Occurrence True Congenital Inferred relationship Some 3
Multiple epiphyseal dysplasia Beighton type (disorder) Occurrence True Congenital Inferred relationship Some 1
Odontomicronychial ectodermal dysplasia (disorder) Occurrence True Congenital Inferred relationship Some 1
Cherubism with gingival fibromatosis (disorder) Occurrence True Congenital Inferred relationship Some 2
Dolichocolon Occurrence True Congenital Inferred relationship Some 1

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